rs1970734

Variant names:

• chr11-80675280-G-A
• rs1970734

Your query was ambiguous. Multiple possible variants found:

• chr11-80675280-G-A
• chr11-80675280-G-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.532 in 151,554 control chromosomes in the GnomAD database, including 24,699 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.53 (24699 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.748
• Publications: 1 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.701 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.532 AC: 80573 AN: 151436 Hom.: 24684 Cov.: 33

Gnomad AFR AF: 0.215

Gnomad AMI AF: 0.701

Gnomad AMR AF: 0.676

Gnomad ASJ AF: 0.587

Gnomad EAS AF: 0.345

Gnomad SAS AF: 0.720

Gnomad FIN AF: 0.653

Gnomad MID AF: 0.589

Gnomad NFE AF: 0.670

Gnomad OTH AF: 0.530

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.532 AC: 80609 AN: 151554 Hom.: 24699 Cov.: 33 AF XY: 0.537 AC XY: 39715 AN XY: 74012

African (AFR) AF: 0.214 AC: 8864 AN: 41386

American (AMR) AF: 0.676 AC: 10298 AN: 15232

Ashkenazi Jewish (ASJ) AF: 0.587 AC: 2030 AN: 3456

East Asian (EAS) AF: 0.346 AC: 1778 AN: 5138

South Asian (SAS) AF: 0.721 AC: 3467 AN: 4808

European-Finnish (FIN) AF: 0.653 AC: 6829 AN: 10460

Middle Eastern (MID) AF: 0.578 AC: 170 AN: 294

European-Non Finnish (NFE) AF: 0.670 AC: 45412 AN: 67768

Other (OTH) AF: 0.535 AC: 1127 AN: 2108

Alfa AF: 0.579 Hom.: 3890

Bravo AF: 0.515

Asia WGS AF: 0.535 AC: 1850 AN: 3460

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.50
DANN	Benign	0.50
PhyloP100		-0.75

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs1970734; hg19: chr11-80386324;